Test in Focus

Katherine Geiersbach, M.D., explains how Mayo Clinic Laboratories' PIK3CA assay informs breast cancer treatment. The assay identifies patients eligible for a certain second-line therapy when initial treatment has failed.

Joseph Maleszewski, M.D., and Marie-Christine Aubry, M.D., explain how Mayo Clinic Laboratory can provide definitive diagnosis of primary ciliary dyskinesia (PCD). Mayo Clinic's expertise and technology have earned the laboratory's designation as the sole center of excellence for diagnosing this rare respiratory disorder.

Paul Jannetto, Ph.D., describes Mayo Clinic Laboratories' new direct biomarker test for alcohol consumption. PETH is a blood test with a window of detection of about two to four weeks — compared with five days for urine-based screening for alcohol use.

Ann Moyer, M.D., Ph.D., and Paul Jannetto, Ph.D., explain how precision therapeutics can improve treatment for patients with major depressive disorder. The optimal antidepressant medication and dose vary among individuals. Pharmacogenomic testing and therapeutic drug monitoring can guide clinicians to the most-effective treatment for each patient.

Linnea M. Baudhuin, Ph.D., and Emily K. Thoreson, M.S., CGC, explain how Mayo Clinic Laboratories renal genetics testing provides comprehensive, accurate and actionable results. Identifying a genetic cause helps guide the complex decisions involved with treating kidney disease.

Divyanshu (Div) Dubey, M.B.B.S., describes Mayo Clinic Laboratories' new diagnostic test for CIDP, or chronic inflammatory demyelinating polyneuropathy. The new test detects two antibodies — NF155 and CNTN1 — to enhance diagnosis and guide treatment decisions. Often misdiagnosed, CIDP is treatable if detected early.

John Lieske, M.D., describes Mayo Clinic Laboratories' new test for primary membranous nephropathy. PMND1 is a diagnostic cascade that provides a cost-effective approach to detecting antigens known to cause membranous nephropathy — a condition that can lead to kidney failure.

Rong He, M.D., describes how Mayo Clinic Laboratories’ NPM1Q assay detects all known forms of a genetic mutation found in about 30% of people with acute myeloid leukemia, or AML. Identifying the NPM1 mutation is critical for clinical decision-making.

Rajiv Pruthi, M.B.B.S., explains how Mayo Clinic Laboratories’ serotonin release assay achieves high sensitivity and specificity while avoiding the use of radioactive materials. Serotonin release testing is an important tool in the diagnosis of heparin induced thrombocytopenia, or HIT, which can have devastating consequences for patients.

Joshua Bornhorst, Ph.D., describes the new, FDA-approved Alzheimer's disease (AD) test and how it differs from Mayo Clinic Laboratories' existing AD evaluation. The laboratory will offer both tests, to ensure flexibility and options for managing clinical care.

Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC, discuss whole exome sequencing (WES) at Mayo Clinic Laboratories. The comprehensive evaluation uses next-generation sequencing to detect for single nucleotide variants, small insertions or deletions, and copy number variants on approximately 20,000 genes, enabling precision answers to accurately diagnose, manage, and treat patients with identified inherited illness.

Alicia Algeciras, Ph.D., describes Mayo Clinic Laboratories’ new blood test to detect NFLC, or neurofilament light chain protein. NFLC is a biomarker for several neurodegenerative conditions. The new assay can determine if a patient’s cognitive decline is due to a neurodegenerative condition or some other, reversible condition — while avoiding the need for more-invasive testing of cerebrospinal fluid.